A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6227



Internal ID15204429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:62979528..63024393hg38UCSC Ensembl
Outerchr8:63892087..63936952hg19UCSC Ensembl
Outerchr8:64054641..64099506hg18UCSC Ensembl
Outerchr8:64054641..64099506hg17UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg3844866
hg1944866
hg1844866
hg1744866
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8503
SamplesNA12156
Known GenesGGH, NKAIN3, UG0898H09
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv6227
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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